chr2:219420347:G>C Detail (hg38) (DES)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,285,069-220,285,069 View the variant detail on this assembly version. |
| hg38 | chr2:219,420,347-219,420,347 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001927.3:c.735+1G>C | |
| Ensemble | ENST00000373960.4:c.735+1G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-03-05 | criteria provided, single submitter | Desmin-related myofibrillar myopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001927.4(DES):c.735+1G>C AND Desmin-related myofibrillar myopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs397516698 dbSNP
- Genome
- hg38
- Position
- chr2:219,420,347-219,420,347
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser